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| Gene | PTEN |
| Variant | D24G |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | PTEN D24G lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D24G confers a loss of Pten protein function as demonstrated by reduced phosphatase activity in a yeast assay (PMID: 29706350) and increased transformation ability in two different cell lines (PMID: 29533785). |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN inact mut PTEN D24G |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87864540A>G |
| cDNA | c.71A>G |
| Protein | p.D24G |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314.6 | chr10:g.87864540A>G | c.71A>G | p.D24G | RefSeq | GRCh38/hg38 |
| NM_000314 | chr10:g.87864540A>G | c.71A>G | p.D24G | RefSeq | GRCh38/hg38 |
| NM_000314.8 | chr10:g.87864540A>G | c.71A>G | p.D24G | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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